No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
---|
1 | 5 | 140018378 | C | T | ENST00000510680 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | c.523G>A | p.A175T | non-syn | rs4912718 | 0.507 | - | - | - | - | - | het | 5 |
2 | 5 | 140018378 | C | T | ENST00000510680 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | c.523G>A | p.A175T | non-syn | rs4912718 | 0.507 | - | - | - | - | - | hom | 3 |
3 | 5 | 140025241 | G | A | ENST00000252102 | ENSG00000131495 | 140018325 | 140027370 | ENSP00000252102 | NDUFA2 | -1 | NDUA2_HUMAN | c.231C>T | p.V77V | syn | rs138059203 | 0.0127 | A=0/G=8600;A=29/G=4377;A=29/G=12977 | lod=122:483 | - | - | - | het | 1 |
4 | 5 | 140025241 | G | A | ENST00000502960 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | c.539C>T | p.S180F | non-syn | rs138059203 | 0.0127 | A=0/G=8600;A=29/G=4377;A=29/G=12977 | lod=122:483 | - | - | - | het | 1 |
5 | 5 | 140025241 | G | A | ENST00000512088 | ENSG00000131495 | 140018325 | 140027370 | ENSP00000427220 | NDUFA2 | -1 | NDUA2_HUMAN | - | - | 3'_UTR | rs138059203 | 0.0127 | A=0/G=8600;A=29/G=4377;A=29/G=12977 | lod=122:483 | - | - | - | het | 1 |
6 | 5 | 140025291 | A | G | ENST00000512088 | ENSG00000131495 | 140018325 | 140027370 | ENSP00000427220 | NDUFA2 | -1 | NDUA2_HUMAN | c.228T>C | p.S76S | syn | NA | - | G=2/A=8598;G=1/A=4405;G=3/A=13003 | - | - | - | - | het | 2 |
7 | 5 | 140026823 | C | T | ENST00000252102 | ENSG00000131495 | 140018325 | 140027370 | ENSP00000252102 | NDUFA2 | -1 | NDUA2_HUMAN | - | - | +18bp 5'_splice_site | rs188802167 | 0.0032 | T=0/C=8600;T=51/C=4355;T=51/C=12955 | - | - | - | - | het | 1 |
8 | 5 | 140026823 | C | T | ENST00000502960 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | - | - | +18bp 5'_splice_site | rs188802167 | 0.0032 | T=0/C=8600;T=51/C=4355;T=51/C=12955 | - | - | - | - | het | 1 |
9 | 5 | 140026823 | C | T | ENST00000510680 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | - | - | +18bp 5'_splice_site | rs188802167 | 0.0032 | T=0/C=8600;T=51/C=4355;T=51/C=12955 | - | - | - | - | het | 1 |
10 | 5 | 140026823 | C | T | ENST00000512088 | ENSG00000131495 | 140018325 | 140027370 | ENSP00000427220 | NDUFA2 | -1 | NDUA2_HUMAN | - | - | +18bp 5'_splice_site | rs188802167 | 0.0032 | T=0/C=8600;T=51/C=4355;T=51/C=12955 | - | - | - | - | het | 1 |
11 | 5 | 140027022 | A | C | ENST00000502960 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | c.335T>G | p.V112G | non-syn | NA | - | - | lod=26:317 | - | - | - | het | 8 |
12 | 5 | 140027038 | G | C | ENST00000502960 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | c.319C>G | p.L107V | non-syn | NA | - | - | - | - | - | - | het | 2 |
13 | 5 | 140027041 | C | T | ENST00000502960 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | c.316G>A | p.G106R | non-syn | rs200503970 | - | T=1/C=8593;T=49/C=4351;T=50/C=12944 | - | - | - | - | het | 1 |
14 | 5 | 140027041 | C | T | ENST00000502960 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | c.316G>A | p.G106R | non-syn | rs200503970 | - | T=1/C=8593;T=49/C=4351;T=50/C=12944 | - | - | - | - | hom | 1 |
15 | 5 | 140027042 | G | C | ENST00000502960 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | c.315C>G | p.G105G | syn | NA | - | - | lod=15:259 | - | - | - | het | 3 |
16 | 5 | 140027056 | G | T | ENST00000252102 | ENSG00000131495 | 140018325 | 140027370 | ENSP00000252102 | NDUFA2 | -1 | NDUA2_HUMAN | - | - | +12bp 5'_splice_site | NA | - | - | - | - | - | - | het | 1 |
17 | 5 | 140027056 | G | T | ENST00000502960 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | c.301C>A | p.R101S | non-syn | NA | - | - | - | - | - | - | het | 1 |
18 | 5 | 140027056 | G | T | ENST00000512088 | ENSG00000131495 | 140018325 | 140027370 | ENSP00000427220 | NDUFA2 | -1 | NDUA2_HUMAN | - | - | +12bp 5'_splice_site | NA | - | - | - | - | - | - | het | 1 |
19 | 5 | 140027129 | G | C | ENST00000252102 | ENSG00000131495 | 140018325 | 140027370 | ENSP00000252102 | NDUFA2 | -1 | NDUA2_HUMAN | c.40C>G | p.L14V | non-syn | rs35672074 | - | C=17/G=8583;C=0/G=4404;C=17/G=12987 | - | TOLERATED | B | - | het | 3 |
20 | 5 | 140027129 | G | C | ENST00000502960 | ENSG00000131495 | 140018325 | 140027370 | - | NDUFA2 | -1 | - | c.228C>G | p.S76R | non-syn | rs35672074 | - | C=17/G=8583;C=0/G=4404;C=17/G=12987 | - | TOLERATED | B | - | het | 3 |